CAJ | 학술논문

目的探讨免疫组织化学(immunohistochemistry,IHC)和免疫印迹(Western blot)法在诊断dystrophin表达异常的临床表现相对良性肌病中的价值.方法收集4例肌肉活体组织检查标本显示dystrophin表达异常、临床表现良性的肌病患者的病史、临床特点,并对肌肉组织标本分别行组织学、IHC(dys-N、dys-R及dys-C)染色,同时进行Western blot分析.结果 4例患者中2例主要表现为肢体无力,另2例主要表现为单纯的肌肉疼痛和血清CK升高.组织学显示2例为明显肌源性改变,可见肌纤维萎缩、肥大及分裂现象,另2例仅见肌纤维轻度大小不等.IHC发现1例患者肌纤维膜dys-N无表达,dys-R及dys-C显示肌纤维膜清晰着色,Western blot示dys-R及dys-C条带较健康对照淡,dys-N条带完全缺失;3例IHC显示患者dys-R无表达,dys-N及dys-C显示肌纤维膜清晰着色,其中2例Western blot示dys-R条带完全缺失,dys-C及dys-N条带相对分子质量改变.结论利用3种抗dystrophin抗体进行肌肉组织IHC标记可以减少漏诊,Western blot对进一步确定dystrophin 蛋白异常类型是十分必要的.
목적 탐토면역조직화학(immunohistochemistry,IHC)화면역인적(Western blot)법재진단dystrophin표체이상적림상표현상대량성기병중적개치.방법 수집4례기육활체조직검사표본현시dystrophin표체이상、림상표현량성적기병환자적병사、림상특점,병대기육조직표본분별행조직학、IHC(dys-N、dys-R급dys-C)염색,동시진행Western blot분석.결과 4례환자중2례주요표현위지체무력,령2례주요표현위단순적기육동통화혈청CK승고.조직학현시2례위명현기원성개변,가견기섬유위축、비대급분렬현상,령2례부견기섬유경도대소불등.IHC발현1례환자기섬유막dys-N무표체,dys-R급dys-C현시기섬유막청석착색,Western blot시dys-R급dys-C조대교건강대조담,dys-N조대완전결실;3례IHC현시환자dys-R무표체,dys-N급dys-C현시기섬유막청석착색,기중2례Western blot시dys-R조대완전결실,dys-C급dys-N조대상대분자질량개변.결론 이용3충항dystrophin항체진행기육조직IHC표기가이감소루진,Western blot대진일보학정dystrophin 단백이상류형시십분필요적.
Objective To investigate the value of the immunohistochemistry and Western blot in the diagnosis of the benign muscular dystrophy with abnormal dystrophin expression.Methods The medical histories and clinical manifestations of 4 patients were collected.In addition to routine histological and histochemical studies,expression of dystrophin in muscle fibets was observed by immunohistochemical reaction(dys-N,dys-R and dys-C)and Western blot to anti-dystrophin antibody.Results Two patients had muscular weakness while another 2 patients had only muscular pain and elevated creatine kinase blood levels without muscular weakness.Histochemical stains showed atrophy,hypertrophy and fiber splitting in 2 patients,while only variation in fiber size was presented in anothor 2 patients.One patient had no reaction for dys-N,but had immunostains for dys-C and dys-R in the sarcolemma of muscle fibers.Western blot confirmed that the band of dys-C and dys-R was partly deficient,and the band of dys-N was absent compared with control.Three patients had no reaction for dys-R,but had immunostains for dys-C and dys-N.Compared with control,Western blot confirmed that the band of dys-R was absent,and the band of dys-C and dys-N were truncated.Conclusion The immunohistochemistry is stained with three anti-dystrophin antibodies to avoid diagnostic errors.Western blot is essential to further determine the type of dystrophin protein.